PHYSICAL EXAMINATION AND HEALTH
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics: Family History
& Pedigree
Stem
A 42-year-old woman presents for routine care and reports her
mother was diagnosed with colorectal cancer at 52 and a
maternal uncle died of ovarian cancer at 58. She is otherwise
healthy and concerned about her risk. You document a three-
generation pedigree and note a pattern of early-onset
colorectal and ovarian cancers on the maternal side. What is
the most appropriate next action?
Page 1 of 987
,Options
A. Recommend annual colonoscopy starting immediately.
B. Refer for genetic counseling and consider germline testing for
hereditary cancer syndrome.
C. Reassure the patient and schedule routine screening per
population guidelines (start at 50).
D. Order CA-125 and fecal occult blood test (FOBT) now.
Correct answer
B
Rationales
Correct (B): Jarvis emphasizes targeted risk assessment using
three-generation pedigrees; clustered early-onset colorectal
and ovarian cancers suggest a hereditary cancer syndrome (e.g.,
Lynch or BRCA-associated patterns). Genetic counseling and
germline testing are the evidence-based next steps to clarify
risk and guide earlier, intensified screening for the patient and
relatives. This prioritizes safety by identifying high-risk
individuals.
Incorrect (A): Immediate annual colonoscopy may be
appropriate after risk stratification if testing/counseling
indicates a high-risk syndrome, but jumping to invasive
screening without genetic evaluation bypasses recommended
sequence.
Incorrect (C): Reassurance and standard population screening
ignores the family pattern of early cancers; this underestimates
risk per Jarvis’ pedigree approach.
Page 2 of 987
,Incorrect (D): CA-125 and FOBT are low-sensitivity for
hereditary risk detection and do not replace genetic evaluation;
ordering them now is not the evidence-based priority.
Teaching point
Three-generation pedigree → genetic counseling when early-
onset, clustered cancers occur.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics: Inheritance
Patterns
Stem
A 6-month-old infant is brought for a well visit. The mother
reports that the infant’s older brother died in infancy from an
unexplained metabolic crisis. The newborn screen was
reportedly normal, but current exam shows mild hypotonia and
poor feeding. Parents ask about recurrence risk for future
children. What is the best immediate clinical action?
Options
A. Order a full metabolic panel and urgent metabolic/genetic
consult.
B. Reassure the parents that newborn screen rules out
Page 3 of 987
, metabolic disorders.
C. Schedule routine follow-up in one month and observe
feeding.
D. Recommend carrier testing for both parents without acute
evaluation.
Correct answer
A
Rationales
Correct (A): Jarvis stresses rapid evaluation when family history
and current presentation suggest possible inherited metabolic
disease; hypotonia and poor feeding in an infant with a sibling
who died of a metabolic crisis warrant urgent metabolic panel
and genetics/metabolic consultation to identify treatable
conditions and reduce morbidity/mortality.
Incorrect (B): A normal newborn screen does not exclude all
metabolic disorders — false negatives and late-onset
presentations occur. Reassurance alone is unsafe.
Incorrect (C): Delaying evaluation risks progression of
potentially treatable metabolic disease. Observation without
testing is not evidence-based.
Incorrect (D): Carrier testing of parents may be informative for
recurrence risk but is not the immediate priority when the
infant is symptomatic; acute evaluation is needed first.
Teaching point
Suspected metabolic disorders require urgent
metabolic/genetic evaluation despite normal newborn screens.
Page 4 of 987
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics: Family History
& Pedigree
Stem
A 42-year-old woman presents for routine care and reports her
mother was diagnosed with colorectal cancer at 52 and a
maternal uncle died of ovarian cancer at 58. She is otherwise
healthy and concerned about her risk. You document a three-
generation pedigree and note a pattern of early-onset
colorectal and ovarian cancers on the maternal side. What is
the most appropriate next action?
Page 1 of 987
,Options
A. Recommend annual colonoscopy starting immediately.
B. Refer for genetic counseling and consider germline testing for
hereditary cancer syndrome.
C. Reassure the patient and schedule routine screening per
population guidelines (start at 50).
D. Order CA-125 and fecal occult blood test (FOBT) now.
Correct answer
B
Rationales
Correct (B): Jarvis emphasizes targeted risk assessment using
three-generation pedigrees; clustered early-onset colorectal
and ovarian cancers suggest a hereditary cancer syndrome (e.g.,
Lynch or BRCA-associated patterns). Genetic counseling and
germline testing are the evidence-based next steps to clarify
risk and guide earlier, intensified screening for the patient and
relatives. This prioritizes safety by identifying high-risk
individuals.
Incorrect (A): Immediate annual colonoscopy may be
appropriate after risk stratification if testing/counseling
indicates a high-risk syndrome, but jumping to invasive
screening without genetic evaluation bypasses recommended
sequence.
Incorrect (C): Reassurance and standard population screening
ignores the family pattern of early cancers; this underestimates
risk per Jarvis’ pedigree approach.
Page 2 of 987
,Incorrect (D): CA-125 and FOBT are low-sensitivity for
hereditary risk detection and do not replace genetic evaluation;
ordering them now is not the evidence-based priority.
Teaching point
Three-generation pedigree → genetic counseling when early-
onset, clustered cancers occur.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics: Inheritance
Patterns
Stem
A 6-month-old infant is brought for a well visit. The mother
reports that the infant’s older brother died in infancy from an
unexplained metabolic crisis. The newborn screen was
reportedly normal, but current exam shows mild hypotonia and
poor feeding. Parents ask about recurrence risk for future
children. What is the best immediate clinical action?
Options
A. Order a full metabolic panel and urgent metabolic/genetic
consult.
B. Reassure the parents that newborn screen rules out
Page 3 of 987
, metabolic disorders.
C. Schedule routine follow-up in one month and observe
feeding.
D. Recommend carrier testing for both parents without acute
evaluation.
Correct answer
A
Rationales
Correct (A): Jarvis stresses rapid evaluation when family history
and current presentation suggest possible inherited metabolic
disease; hypotonia and poor feeding in an infant with a sibling
who died of a metabolic crisis warrant urgent metabolic panel
and genetics/metabolic consultation to identify treatable
conditions and reduce morbidity/mortality.
Incorrect (B): A normal newborn screen does not exclude all
metabolic disorders — false negatives and late-onset
presentations occur. Reassurance alone is unsafe.
Incorrect (C): Delaying evaluation risks progression of
potentially treatable metabolic disease. Observation without
testing is not evidence-based.
Incorrect (D): Carrier testing of parents may be informative for
recurrence risk but is not the immediate priority when the
infant is symptomatic; acute evaluation is needed first.
Teaching point
Suspected metabolic disorders require urgent
metabolic/genetic evaluation despite normal newborn screens.
Page 4 of 987
